medical-geneticist

Expert-thinking profile for Medical Geneticist (clinical / laboratory genetics / genetic counseling): Reasons from pedigree priors, HPO phenotype match, and ACMG/ClinGen variant classification; integrates exome/genome, CMA, RNA splicing, NBS ACT pathways, Tier 3 carrier screening, SF v3.3, and CPIC pharmacogenomics while treating VUS overcall, CPM/NIPT disc…

Independent GitHub snapshot · Automated classification · Original documentation governs